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Prediction of Individual Disease Progression Including Parameter Uncertainty in Rare Neurodegenerative Diseases: The Example of Autosomal-Recessive Spastic Ataxia Charlevoix Saguenay (ARSACS).
Hendrickx N, Mentré F, Traschütz A, Gagnon C, Schüle R; ARCA Study Group; EVIDENCE-R. N. D. consortium; Synofzik M, Comets E. Hendrickx N, et al. Among authors: traschutz a. AAPS J. 2024 Apr 30;26(3):57. doi: 10.1208/s12248-024-00925-7. AAPS J. 2024. PMID: 38689016
GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort.
Pellerin D, Heindl F, Wilke C, Danzi MC, Traschütz A, Ashton C, Dicaire MJ, Cuillerier A, Del Gobbo G, Boycott KM, Claassen J, Rujescu D, Hartmann AM, Zuchner S, Brais B, Strupp M, Synofzik M. Pellerin D, et al. Among authors: traschutz a. EBioMedicine. 2024 Apr;102:105076. doi: 10.1016/j.ebiom.2024.105076. Epub 2024 Mar 19. EBioMedicine. 2024. PMID: 38507876 Free PMC article.
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
Currò R, Dominik N, Facchini S, Vegezzi E, Sullivan R, Galassi Deforie V, Fernández-Eulate G, Traschütz A, Rossi S, Garibaldi M, Kwarciany M, Taroni F, Brusco A, Good JM, Cavalcanti F, Hammans S, Ravenscroft G, Roxburgh RH; RFC1 repeat expansion study group; Parolin Schnekenberg R, Rugginini B, Abati E, Manini A, Quartesan I, Ghia A, Lòpez de Munaìn A, Manganelli F, Kennerson M, Santorelli FM, Infante J, Marques W, Jokela M, Murphy SM, Mandich P, Fabrizi GM, Briani C, Gosal D, Pareyson D, Ferrari A, Prados F, Yousry T, Khurana V, Kuo SH, Miller J, Troakes C, Jaunmuktane Z, Giunti P, Hartmann A, Basak N, Synofzik M, Stojkovic T, Hadjivassiliou M, Reilly MM, Houlden H, Cortese A. Currò R, et al. Among authors: traschutz a. Brain. 2024 May 3;147(5):1887-1898. doi: 10.1093/brain/awad436. Brain. 2024. PMID: 38193360 Free PMC article.
Using Smartphone Sensors for Ataxia Trials: Consensus Guidance by the Ataxia Global Initiative Working Group on Digital-Motor Biomarkers.
Németh AH, Antoniades CA, Dukart J, Minnerop M, Rentz C, Schuman BJ, van de Warrenburg B, Willemse I, Bertini E, Gupta AS, de Mello Monteiro CB, Almoajil H, Quinn L, Perlman SB, Horak F, Ilg W, Traschütz A, Vogel AP, Dawes H; AGI Digital-Motor Biomarkers Working Group. Németh AH, et al. Among authors: traschutz a. Cerebellum. 2023 Nov 28. doi: 10.1007/s12311-023-01608-3. Online ahead of print. Cerebellum. 2023. PMID: 38015365
Intronic FGF14 GAA repeat expansions are a common cause of downbeat nystagmus syndromes: frequency, phenotypic profile, and 4-aminopyridine treatment response.
Pellerin D, Heindl F, Wilke C, Danzi MC, Traschütz A, Ashton C, Dicaire MJ, Cuillerier A, Del Gobbo G, Boycott KM, Claassen J, Rujescu D, Hartmann AM, Zuchner S, Brais B, Strupp M, Synofzik M. Pellerin D, et al. Among authors: traschutz a. medRxiv [Preprint]. 2023 Aug 5:2023.07.30.23293380. doi: 10.1101/2023.07.30.23293380. medRxiv. 2023. PMID: 37577458 Free PMC article. Updated. Preprint.
Seroprevalence of autoimmune antibodies in degenerative ataxias: a broad, disease-controlled screening in 456 subjects.
Roeben B, Scharf M, Miske R, Teegen B, Traschütz A, Wilke C, Zimmermann M, Deuschle C, Schulte C, Brockmann K, Schöls L, Komorowski L, Synofzik M. Roeben B, et al. Among authors: traschutz a. J Neurol. 2023 Nov;270(11):5649-5654. doi: 10.1007/s00415-023-11900-1. Epub 2023 Jul 28. J Neurol. 2023. PMID: 37507501 Free PMC article. No abstract available.
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